It’s not so rare to have a rare disease – Anne Lawlor
I’ve been working in the area of rare diseases for about 8 years now, with GRDO (genetic and rare disorders organisation) for two years and with the 22q11 Ireland support group since 2007.
February is general election month here in Ireland but on the very last day of this month millions of people worldwide observe “Rare Disease Day”. In Ireland the rare disease movement has yet to gather the same momentum as it has in other countries. We in the rare disease community however live our lives every day affected by the issues that living with a rare disease brings. Individually rare diseases may indeed be rare but collectively they are very common indeed. There are at least 7,000 of them making them not so rare at all and a (conservative) estimate of 300,000 people affected in Ireland.
There are ultra-rare, rare and more ‘common’ rare diseases and they are a significant cause of physical, intellectual and sensory disabilities. In Ireland children with various disabilities remain undiagnosed as genetic testing is not routine for many. Genetic literacy is quite low here and things are not helped by the fact that staffing levels for our genetic service are essentially the same as they were when my daughter was diagnosed with 22q11.2 deletion syndrome many years ago in 1998. Indeed Ireland has one of the worst genetic staff quotients in Europe and long waiting lists.
Families often have trouble getting access to life-saving medical treatment or other services because of lack of awareness. Their insurance, medical, educational and other professionals may not be familiar with their diseases making other supports also difficult to access.
Some, such as cancer (most types of cancer are rare) and Lou Gehrig’s disease (ALS) are well known to the public. Many others are not and you can imagine the loneliness of having a disease that most people have never heard of, has no treatment, and is not even being studied by medical researchers.
Most, if not all people when faced with the lack of information turn to the Internet for support. FaceBook is where many parents find me. Just recently a mum whose child had got a recent diagnosis got in touch with me to ask how could she set up a foundation. She has three reasons for wanting to do so, to support new families, secondly to raise awareness and thirdly to fund more research into the syndrome. I asked myself as I often do, how is this fair? Why is supporting newly diagnosed families, raising awareness and funding research left to parents to do? Is it not enough that they have to deal with a sometimes devastating diagnosis on their beloved child without having to this extra work? Is this fair?
The publishing of the National Rare Disease Plan for Ireland in 2014 and the opening of the rare disease office in the Mater Hospital are very welcome steps forward but as long as mums of newly diagnosed children are contacting me with the same questions that I had 18 long years ago I know that inequalities in the area of rare diseases will remain. Until the rare disease plan is fully implemented this area of discrimination in accessing medical, educational and adequate social supports for people with rare and genetic conditions will continue.
Anne Lawlor February 2016